Superoxide Dismutase 1

Alternative Names

  • SOD1
  • Superoxide Dismutase, Cytosolic
  • Superoxide Dismutase, Soluble
  • SOD, Soluble
  • Superoxide Dismutase, Copper-Zinc
  • Indophenol Oxidase A
  • IPOA
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OMIM Number

147450

NCBI Gene ID

6647

Uniprot ID

P00441

Length

9,266 bases

No. of Exons

5

No. of isoforms

1

Protein Name

Superoxide dismutase [Cu-Zn]

Molecular Mass

15936 Da

Amino Acid Count

154

Genomic Location

chr21:31,659,666-31,668,931

Gene Map Locus
21q22.11

Description

The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000454.4:c.352C>GLebanonNC_000021.9:g.31667370C>GLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely Pathogenic, PathogenicAmyotrophic Lateral Sclerosis 1NG_008689.1:g.12749C>G; NM_000454.4:c.352C>G; NP_000445.1:p.Leu118Val199474723809280
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